MCID: GLS018
MIFTS: 39

Glass Syndrome

Categories: Genetic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Glass Syndrome

MalaCards integrated aliases for Glass Syndrome:

Name: Glass Syndrome 54 12 24
Chromosome 2q32-Q33 Deletion Syndrome 12 24 29 13 14 69
2q32-Q33 Microdeletion Syndrome 12 56
2q32q33 Microdeletion Syndrome 12 56
Monosomy 2q32-Q33 12 56
Monosomy 2q32q33 12 56
Monosomy 2q32 12 56
Del(2)(q32q33) 56
Del(2)(q32) 56

Characteristics:

Orphanet epidemiological data:

56
2q32q33 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
variable manifestations


HPO:

32
glass syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Glass Syndrome

OMIM : 54
Glass syndrome is characterized by intellectual disability of variable severity and dysmorphic facial features, including micrognathia, downslanting palpebral fissures, cleft palate, and crowded teeth. Additional features may include seizures, joint laxity, arachnodactyly, and happy demeanor (summary by Glass et al., 1989; Urquhart et al., 2009; Rainger et al., 2014). (612313)

MalaCards based summary : Glass Syndrome, also known as chromosome 2q32-q33 deletion syndrome, is related to satb2-associated syndrome and myasthenic syndrome, congenital, 2a, slow-channel, and has symptoms including short stature, strabismus and intellectual disability, severe. An important gene associated with Glass Syndrome is SATB2 (SATB Homeobox 2). The drugs Cinnarizine and Diazepam have been mentioned in the context of this disorder. Affiliated tissues include eye, lung and liver.

Related Diseases for Glass Syndrome

Diseases related to Glass Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 satb2-associated syndrome 10.9
2 myasthenic syndrome, congenital, 2a, slow-channel 9.9 HMOX2 SATB2
3 ovarian gonadoblastoma 9.7 SATB2 SERPINC1
4 preeclampsia/eclampsia 1 9.4 HMOX2 SERPINC1
5 myasthenic syndrome, congenital, 3a, slow-channel 7.5 DCTD HMOX2 MYO1B SATB2 SERPINC1 TMEFF2

Graphical network of the top 20 diseases related to Glass Syndrome:



Diseases related to Glass Syndrome

Symptoms & Phenotypes for Glass Syndrome

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Neurologic- Central Nervous System:
delayed psychomotor development
mental retardation
seizures (in some patients)
broad-based gait
poor speech development

Head And Neck- Eyes:
downslanting palpebral fissures

Head And Neck- Ears:
low-set ears

Skin Nails & Hair- Skin:
thin skin

Neurologic- Behavioral Psychiatric Manifestations:
hyperactivity
aggression
happy demeanor

Head And Neck- Nose:
long nose
bulbous nasal tip
prominent nasal bridge
thin nose

Skeletal- Feet:
pes equinovarus

Skin Nails & Hair- Hair:
thin, sparse hair

Head And Neck- Mouth:
high-arched palate
small mouth
cleft palate

Head And Neck- Face:
high forehead
long face
micrognathia
midface hypoplasia
frontal bossing
more
Head And Neck- Head:
microcephaly

Skeletal- Hands:
camptodactyly
arachnodactyly

Abdomen- External Features:
inguinal hernia

Head And Neck- Teeth:
crowded teeth
peg-shaped teeth
delayed primary dentition
oligodontia

Growth- Other:
growth retardation, pre- and postnatal

Skin Nails & Hair- Nails:
dysplastic nails

Laboratory- Abnormalities:
some patients carry a deletion of minimum of 8.1 mb on 2q32-q33


Clinical features from OMIM:

612313

Human phenotypes related to Glass Syndrome:

56 32 (show top 50) (show all 59)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
3 intellectual disability, severe 56 32 hallmark (90%) Very frequent (99-80%) HP:0010864
4 high forehead 56 32 frequent (33%) Frequent (79-30%) HP:0000348
5 microcephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000252
6 long face 56 32 occasional (7.5%) Occasional (29-5%) HP:0000276
7 low-set ears 56 32 frequent (33%) Frequent (79-30%) HP:0000369
8 micrognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000347
9 sparse hair 56 32 occasional (7.5%) Occasional (29-5%) HP:0008070
10 cleft palate 56 32 frequent (33%) Frequent (79-30%) HP:0000175
11 anteverted nares 56 32 occasional (7.5%) Occasional (29-5%) HP:0000463
12 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
13 talipes equinovarus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001762
14 autism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000717
15 aggressive behavior 56 32 occasional (7.5%) Occasional (29-5%) HP:0000718
16 thin vermilion border 56 32 frequent (33%) Frequent (79-30%) HP:0000233
17 long philtrum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000343
18 brachycephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000248
19 feeding difficulties 56 32 frequent (33%) Frequent (79-30%) HP:0011968
20 downslanted palpebral fissures 56 32 occasional (7.5%) Occasional (29-5%) HP:0000494
21 high palate 56 32 frequent (33%) Frequent (79-30%) HP:0000218
22 joint hyperflexibility 56 32 occasional (7.5%) Occasional (29-5%) HP:0005692
23 arachnodactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001166
24 facial asymmetry 56 32 occasional (7.5%) Occasional (29-5%) HP:0000324
25 fine hair 56 32 frequent (33%) Frequent (79-30%) HP:0002213
26 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
27 anxiety 56 32 occasional (7.5%) Occasional (29-5%) HP:0000739
28 prominent nasal bridge 56 32 frequent (33%) Frequent (79-30%) HP:0000426
29 oligodontia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000677
30 dental crowding 56 32 frequent (33%) Frequent (79-30%) HP:0000678
31 broad thumb 56 32 occasional (7.5%) Occasional (29-5%) HP:0011304
32 decreased testicular size 56 32 occasional (7.5%) Occasional (29-5%) HP:0008734
33 delayed speech and language development 56 32 hallmark (90%) Very frequent (99-80%) HP:0000750
34 attention deficit hyperactivity disorder 56 32 occasional (7.5%) Occasional (29-5%) HP:0007018
35 convex nasal ridge 56 32 occasional (7.5%) Occasional (29-5%) HP:0000444
36 sleep disturbance 56 32 occasional (7.5%) Occasional (29-5%) HP:0002360
37 narrow mouth 56 32 occasional (7.5%) Occasional (29-5%) HP:0000160
38 broad hallux phalanx 56 32 occasional (7.5%) Occasional (29-5%) HP:0010059
39 toe clinodactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001863
40 incomprehensible speech 56 32 occasional (7.5%) Occasional (29-5%) HP:0002546
41 clinodactyly of the 5th finger 56 32 occasional (7.5%) Occasional (29-5%) HP:0004209
42 conspicuously happy disposition 56 32 occasional (7.5%) Occasional (29-5%) HP:0100024
43 bulbous nose 32 HP:0000414
44 seizures 32 HP:0001250
45 frontal bossing 32 HP:0002007
46 camptodactyly 32 HP:0012385
47 thin skin 32 HP:0000963
48 inguinal hernia 32 HP:0000023
49 intellectual disability 32 HP:0001249
50 hyperactivity 32 HP:0000752

UMLS symptoms related to Glass Syndrome:


thin, sparse hair

Drugs & Therapeutics for Glass Syndrome

Drugs for Glass Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 201)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cinnarizine Approved Phase 4 298-57-7 2761 1547484
2
Diazepam Approved, Illicit, Vet_approved Phase 4 439-14-5 3016
3
Dopamine Approved Phase 4,Phase 2,Phase 1 51-61-6, 62-31-7 681
4
Haloperidol Approved Phase 4 52-86-8 3559
5
Histamine Approved, Investigational Phase 4,Phase 3,Phase 2 75614-87-8, 51-45-6 774
6
Methamphetamine Approved, Illicit Phase 4,Phase 2,Phase 1 537-46-2 10836
7
Everolimus Approved Phase 4,Phase 1,Phase 2 159351-69-6 6442177
8
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2 22916-47-8 4189
9
Sirolimus Approved, Investigational Phase 4,Phase 1,Phase 2 53123-88-9 5284616 6436030 46835353
10
Bivalirudin Approved, Investigational Phase 4 128270-60-0 16129704
11
Cangrelor Approved Phase 4 163706-06-7 9854012
12
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
13
Ticagrelor Approved Phase 4 274693-27-5 9871419
14
Acetaminophen Approved Phase 4 103-90-2 1983
15
alemtuzumab Approved, Investigational Phase 4 216503-57-0
16
Diphenhydramine Approved Phase 4 58-73-1, 147-24-0 3100
17
Mycophenolate mofetil Approved, Investigational Phase 4 128794-94-5 5281078
18
Mycophenolic acid Approved Phase 4 24280-93-1 446541
19
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
20
Promethazine Approved Phase 4 60-87-7 4927
21
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492
22
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
23
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 1,Phase 2 59-30-3 6037
24
Thiamine Approved, Nutraceutical, Vet_approved Phase 4 59-43-8 1130
25 Micronutrients Phase 4
26 Trace Elements Phase 4
27 Vitamins Phase 4,Phase 2,Phase 3
28 Anti-Infective Agents Phase 4,Phase 2,Phase 1
29 Adjuvants, Anesthesia Phase 4
30 Adrenergic Agents Phase 4,Phase 2,Phase 1
31 Anesthetics Phase 4
32 Anesthetics, General Phase 4
33 Anesthetics, Intravenous Phase 4
34 Anti-Anxiety Agents Phase 4
35 Anticonvulsants Phase 4
36 Antiemetics Phase 4
37 Antipsychotic Agents Phase 4,Phase 2
38 Autonomic Agents Phase 4,Phase 2,Phase 1
39 calcium channel blockers Phase 4
40 Calcium, Dietary Phase 4
41 Central Nervous System Depressants Phase 4,Phase 2
42 Central Nervous System Stimulants Phase 4,Phase 3,Phase 2,Phase 1
43 decanoic acid Phase 4
44 Dopamine Agents Phase 4,Phase 2,Phase 1
45 Dopamine Antagonists Phase 4
46 Dopamine Uptake Inhibitors Phase 4,Phase 2,Phase 1
47 GABA Agents Phase 4
48 GABA Modulators Phase 4
49 Gastrointestinal Agents Phase 4,Phase 2,Phase 3
50 Haloperidol decanoate Phase 4

Interventional clinical trials:

(show top 50) (show all 63)

id Name Status NCT ID Phase Drugs
1 Therapeutic Effect of Quetiapine on Methamphetamine-Induced Psychosis Completed NCT01939093 Phase 4 Diazepam;Stugeron
2 Cangrelor vs. Ticagrelor for Early Platelet Inhibition in STEMI Not yet recruiting NCT03182855 Phase 4 Ticagrelor;Cangrelor Tetrasodium
3 A Trial of Two Steroid-Free Approaches Toward Mycophenolate Mofetil-Based Monotherapy Immunosuppression Terminated NCT00166712 Phase 4 Tacrolimus (TAC);Sirolimus;Alemtuzumab;Mycophenolate mofetil (MMF)
4 Indicated Prevention With Long-chain Polyunsaturated Omega-3 Fatty Acids in Patients With 22q11 Microdeletion Syndrome. Unknown status NCT02070211 Phase 2, Phase 3
5 Efficacy and Safety of ACZ885 in Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT00685373 Phase 3 Canakinumab (ACZ885)
6 Effects of BF2.649 in the Treatment of Excessive Daytime Sleepiness in Narcolepsy. Completed NCT01638403 Phase 3 BF2.649;Vigil;palcebo
7 Effects of Obex in Overweight and Obese Patients Completed NCT02145442 Phase 2, Phase 3
8 Evaluation of Two Glatiramer Acetate (GA) Formulations in Relapsing-Remitting Multiple Sclerosis (RRMS) Patients Completed NCT01167426 Phase 3 Glatiramer Acetate 20 mg/0.5 mL;Glatiramer acetate 20 mg/0.5 mL
9 Therapeutic Use of Tadekinig Alfa in NLRC4 Mutation and XIAP Deficiency Recruiting NCT03113760 Phase 3 Tadekinig alfa;Placebo
10 A Long-Term Open-Label Treatment and Extension Study of UX003 rhGUS Enzyme Replacement Therapy in Subjects With MPS 7 Active, not recruiting NCT02432144 Phase 3 UX003
11 Efficacy and Safety of Goat Lung Surfactant for the Treatment of Respiratory Distress Syndrome in Preterm Neonates Not yet recruiting NCT02774044 Phase 2, Phase 3 Cadisurf;Survanta
12 Effect of Fenugreek on Milk Production Terminated NCT00851591 Phase 2, Phase 3 fenugreek;Placebo (Psyllium)
13 Romiplostim Treatment of Thrombocytopenia in Subjects With Low or Intermediate-1 Risk Myelodysplastic Syndrome (MDS) Completed NCT00614523 Phase 2 Placebo
14 The Effect of Hesperidin on Glucose / Insulin Metabolism Completed NCT02610491 Phase 2
15 Phase IIb Study to Evaluate the Efficacy and Safety of GFT505 Versus Placebo in Patients With Non-Alcoholic Steatohepatitis (NASH) Completed NCT01694849 Phase 2 GFT505 80mg;GFT505 120mg;Placebo
16 Effect of G17DT in Patients With Stage II/III Colorectal Cancer Completed NCT02518373 Phase 2 Omeprazole
17 Contingency Management for Methamphetamine Abstinence and HIV Post-Exposure Prophylaxis in Men Who Have Sex With Men Completed NCT00856323 Phase 2 Truvada
18 Aripiprazole Treatment for Methamphetamine Dependence Among High-risk Individuals Completed NCT00497055 Phase 2 Aripiprazole;Placebo
19 Promoting Safer Sex in HIV+ Homosexual and Bisexual Men Who Use Methamphetamine Completed NCT00291512 Phase 2
20 Mirtazapine to Reduce Methamphetamine Use Among MSM With High-risk HIV Behaviors Completed NCT00497081 Phase 2 mirtazapine;placebo
21 Acceptability of Pharmacologic Treatment for Methamphetamine Dependence Among MSM Completed NCT00318409 Phase 2 Bupropion;Placebo
22 Behavior Change and Maintenance Intervention for HIV+ MSM Methamphetamine Users Completed NCT00432926 Phase 2
23 Stonewall Treatment Evaluation Project Completed NCT01129401 Phase 1, Phase 2
24 Biobehavioral Interventions for HIV-negative, Stimulant Using Men Who Have Sex With Men Completed NCT01140880 Phase 2 Truvada
25 RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome (PTEN) Recruiting NCT02991807 Phase 1, Phase 2 RAD001;Placebo
26 Trial of Ibudilast for Methamphetamine Dependence Active, not recruiting NCT01860807 Phase 2 Ibudilast;Placebo
27 A Phase IIb Study to Evaluate a Long-Acting Intramuscular Regimen for Maintenance of Virologic Suppression (Following Induction With an Oral Regimen of GSK1265744 and Abacavir/Lamivudine) in Human Immunodeficiency Virus Type 1 (HIV-1) Infected, Antiretrov Active, not recruiting NCT02120352 Phase 2 GSK744;GSK744 LA;TMC278 LA;ABC/3TC;RPV
28 IGF-MTX Conjugate in the Treatment of Myelodysplastic Syndrome Not yet recruiting NCT03175978 Phase 1, Phase 2 IGF/MTX
29 First In Human Study on Synthetic Surfactant CHF 5633 in Respiratory Distress Syndrome Completed NCT01651637 Phase 1 synthetic surfactant (CHF5633)
30 Phase I Study of ON 01910.Na in Refractory Leukemia or Myelodysplastic Syndrome (MDS) Completed NCT00854646 Phase 1 ON 01910.Na
31 A Phase I Study of AC220 in Patients With Relapsed/Refractory Acute Myeloid Leukemia Regardless of FLT3 Status Completed NCT00462761 Phase 1 AC220
32 A Study to Investigate the Pharmacokinetics, Pharmacodynamic Effects, Safety and Tolerability of Repeated Dosing of RO5459072 in Volunteers With Celiac Disease Completed NCT02679014 Phase 1 Placebo;RO5459072
33 Pacritinib in Combination With Low Dose Decitabine in Intermediate-High Risk Myelofibrosis or Myeloproliferative Neoplasm (MPN)/Myelodysplastic Syndrome (MDS) Withdrawn NCT02564536 Phase 1 Pacritinib;Decitabine
34 Inflammatory Mediators in Obstructive Sleep Apnoea Syndrome; Mechanisms of Production and the Effect of Long Term Antioxidants Administration Unknown status NCT01188005 Vitamin A, Vitamin C, Vitamin E, Allopurinol, N-Acetylcysteine
35 Group Education to Improve the Iodine Nutrition in Pregnancy: Cluster Randomized Trial Unknown status NCT01301768
36 Eyelash Line Resection for Entropion Associated With Down's Syndrome Completed NCT01758718
37 Study to Assess Antioxidant Efficacy of Spirulina on oxLDL and Lipids Metabolism on Subjects With Metabolic Syndrome Completed NCT02817620
38 Effect of Combined Therapy on Neglect Syndrome in Stroke Patients Completed NCT00784706
39 Effect of Flixweed and Fig on Irritable Bowel Syndrome With Predominant Constipation: a Single Blind Randomized Clinical Trial. Completed NCT02559245
40 The Effectiveness of Physical Therapy Modalities in Carpal Tunnel Syndrome Completed NCT03061149
41 Moisture Chamber Glasses for Dry Eye in Asian Population Completed NCT01388426
42 Long Term (1 Year) Respiratory Sequelae in Children Surviving an Acute Respiratory Distress Syndrome Completed NCT01435889
43 Effects of Polyphenols Found in Pomegranate Juice on Postprandial Blood Glucose in Vivo Completed NCT02624609
44 Examination and Treatment of Elderly After a Fall Completed NCT00226486
45 German Lactat Clearance in Severe Sepsis Completed NCT01929772
46 Treatment of Meibomian Gland Dysfunction and Evaporative Dry Eye Completed NCT00832130
47 Intervention Targeting Medication Adherence and Methamphetamine Use in HIV Positive Men (ACE) Completed NCT01122186
48 STD Risk Reduction for Heterosexual Methamphetamine Users Completed NCT00344214
49 Reduction of Drug Use and HIV Risk Among Out-of-Treatment Methamphetamine Users Completed NCT01161485
50 Childhood Cancer and Plexiform Neurofibroma Tissue Microarray for Molecular Target Screening and Clinical Drug Development Completed NCT00340522

Search NIH Clinical Center for Glass Syndrome

Genetic Tests for Glass Syndrome

Genetic tests related to Glass Syndrome:

id Genetic test Affiliating Genes
1 Chromosome 2q32-Q33 Deletion Syndrome 29
2 Glass Syndrome 24 SATB2

Anatomical Context for Glass Syndrome

MalaCards organs/tissues related to Glass Syndrome:

39
Eye, Lung, Liver, Skin, Endothelial, Myeloid

Publications for Glass Syndrome

Variations for Glass Syndrome

ClinVar genetic disease variations for Glass Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SATB2 NM_015265.3(SATB2): c.715C> T (p.Arg239Ter) single nucleotide variant Pathogenic rs137853127 GRCh37 Chromosome 2, 200213882: 200213882
2 SATB2 NM_015265.3(SATB2): c.1169C> T (p.Thr390Ile) single nucleotide variant Likely pathogenic rs863224917 GRCh37 Chromosome 2, 200213428: 200213428
3 SATB2 NG_016976.1: g.(77205_77207)_(112216_112218)dup duplication Pathogenic GRCh38 Chromosome 2, 199364049: 199399062
4 SATB2 NM_001172509.1(SATB2): c.170_346dup177 duplication Pathogenic GRCh38 Chromosome 2, 199391823: 199446462
5 SATB2 NM_015265.3(SATB2): c.1131_1132delGT (p.Ser378Profs) deletion Pathogenic rs875989830 GRCh37 Chromosome 2, 200213465: 200213466
6 SATB2 NM_015265.3(SATB2): c.1495A> T (p.Lys499Ter) single nucleotide variant Pathogenic rs878853163 GRCh37 Chromosome 2, 200188573: 200188573
7 SATB2 NM_015265.3(SATB2): c.1627delC (p.Arg543Alafs) deletion Pathogenic rs1135401803 GRCh37 Chromosome 2, 200173596: 200173596
8 SATB2 NM_015265.3(SATB2): c.1964C> T (p.Pro655Leu) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 200137172: 200137172

Expression for Glass Syndrome

Search GEO for disease gene expression data for Glass Syndrome.

Pathways for Glass Syndrome

GO Terms for Glass Syndrome

Sources for Glass Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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